Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.L19W
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LIG4

NM_206937.2:p.L19W

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Mismatched Unrelated Donor Hematopoietic Stem Cell Transplantation Rescues Marrow Failure From Acute Leukemia Therapy in a Patient With Previously Undiagnosed Ligase IV Syndrome.

Fridlyand DM et al.

Journal of Pediatric Hematology/oncology, 2023

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.

Castro ACE et al.

Frontiers in Immunology, 2022

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